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3 results on '"Proust, Alexis"'

1. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, Annual Meeting of the Endocrine Society 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, and Annual Meeting of the Endocrine Society 2022

Abstract

CONTEXT : Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing's syndrome is caused by ectopic expression of GIP receptor (GIPR) in the adrenal lesions. Such ectopic expression of GIPR was also reported in other endocrine neoplasm, notably in somatotroph pituitary adenomas from acromegalic patients with paradoxical increase of GH after oral glucose load, suggesting a common molecular pathogenesis. We aimed to identify the driver event responsible for GIP-dependent PBMAH with Cushing's syndrome and ectopic GIPR expression in somatotropinomas. [...]

Published
2022

2. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, Kamenický, Peter, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Abstract

BACKGROUND: GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We aimed to identify the genetic driver event responsible for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome. METHODS: We conducted a multicentre, retrospective, cohort study at endocrine hospitals and university hospitals in France, Canada, Italy, Greece, Belgium, and the Netherlands. We collected blood and adrenal samples from patients who had undergone unilateral or bilateral adrenalectomy for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome. Adrenal samples from patients with primary bilateral macronodular adrenal hyperplasia who had undergone an adrenalectomy for overt or mild Cushing's syndrome without evidence of food-dependent cortisol production and those with GIP-dependent unilateral adrenocortical adenomas were used as control groups. We performed whole genome, whole exome, and targeted next generation sequencing, and copy number analyses of blood and adrenal DNA from patients with familial or sporadic disease. We performed RNA sequencing on adrenal samples and functional analyses of the identified genetic defect in the human adrenocortical cell line H295R. FINDINGS: 17 patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome were studied. The median age of patients was 43·3 (95% CI 38·8-47·8) years and most patients (15 [88%]) were women. We identified germline heterozygous pathogenic or most likely pathogenic variants in the KDM1A gene in all 17 patients. We also identified a recurrent deletion in the short p arm of chromosome 1 harboring the KDM1A locus in adrenal lesions of these patients. None of the 29 patients in the control groups had KDM1A germline or somatic alterations.

Published
2021

3. The ribosomal basis of Diamond-Blackfan Anemia : mutation and database update

Author

Boria, Ilenia, Garelli, Emanuela, Gazda, Hanna T., Aspesi, Anna, Quarello, Paola, Pavesi, Elisa, Ferrante, Daniela, Meerpohl, Joerg J., Kartal, Mutlu, Da Costa, Lydie, Proust, Alexis, Leblanc, Thierry, Simansour, Maud, Dahl, Niklas, Fröjmark, Anne-Sophie, Pospisilova, Dagmar, Cmejla, Radek, Beggs, Alan H., Sheen, Mee R., Landowski, Michael, Buros, Christopher M., Clinton, Catherine M., Dobson, Lori J., Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, Dianzani, Irma, Boria, Ilenia, Garelli, Emanuela, Gazda, Hanna T., Aspesi, Anna, Quarello, Paola, Pavesi, Elisa, Ferrante, Daniela, Meerpohl, Joerg J., Kartal, Mutlu, Da Costa, Lydie, Proust, Alexis, Leblanc, Thierry, Simansour, Maud, Dahl, Niklas, Fröjmark, Anne-Sophie, Pospisilova, Dagmar, Cmejla, Radek, Beggs, Alan H., Sheen, Mee R., Landowski, Michael, Buros, Christopher M., Clinton, Catherine M., Dobson, Lori J., Vlachos, Adrianna, Atsidaftos, Eva, Lipton, Jeffrey M., Ellis, Steven R., Ramenghi, Ugo, and Dianzani, Irma

Abstract

Diamond-Blackfan Anemia (DBA) is characterized by a defect of erythroid progenitors and, clinically, by anemia and malformations. DBA exhibits an autosomal dominant pattern of inheritance with incomplete penetrance. Currently nine genes, all encoding ribosomal proteins (RP), have been found mutated in approximately 50% of patients. Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis. By means of a large collaboration among six centers, we report here a mutation update that includes nine genes and 220 distinct mutations, 56 of which are new. The DBA Mutation Database now includes data from 355 patients. Of those where inheritance has been examined, 125 patients carry a de novo mutation and 72 an inherited mutation. Mutagenesis may be ascribed to slippage in 65.5% of indels, whereas CpG dinucleotides are involved in 23% of transitions. Using bioinformatic tools we show that gene conversion mechanism is not common in RP genes mutagenesis, notwithstanding the abundance of RP pseudogenes. Genotype-phenotype analysis reveals that malformations are more frequently associated with mutations in RPL5 and RPL11 than in the other genes. All currently reported DBA mutations together with their functional and clinical data are included in the DBA Mutation Database.

Published
2010
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